ClinVar Miner

Variants studied for Li-Fraumeni syndrome 2

Coded as:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
11 23 27 0 0 1 1 57

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance established risk allele not provided total
CHEK2 11 23 27 1 1 57

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance established risk allele not provided total
Baylor Genetics 0 3 8 0 0 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 3 7 0 0 10
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 3 3 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 3 1 0 0 7
Department of Genetics, HCU Lozano Blesa 0 5 2 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 4
Department of Human Genetics, Hannover Medical School 2 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1

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